Disease Index

Human disease

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele

muscular pseudohypertrophy expressed in infancy or childhood

osteochondrosis that results in death and collapse located in navicular bone of foot

rare inherited human disease

Human disease

human disease

genetic disease

group of diseases that affect myelopoiesis, causing a congenital form of neutropenia

Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11 (see this term)

medical condition

congenital disorder of the nervous system

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment

human disease

Human disease

2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia)

human disease

hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range

medical condition

Human disease

human disease

condition involving a decreased ability to digest lactose due to a lack of lactase in the small intestines, either genetically or from injury

autosomal dominant disease that is characterized by abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes

type of rare, inherited, severe, progressive myoclonic epilepsy

human disease

human disease

an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC)